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From genetics to response to injury: vascular smooth muscle cells in aneurysms and dissections of the ascending aorta

Cardiovascular research, 2018-03, Vol.114 (4), p.578-589

2018

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False lumen embolization in chronic aortic dissection promotes thoracic aortic remodeling at midterm follow-up

Journal of vascular surgery, 2019-09, Vol.70 (3), p.710-717

2019

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Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

Genetics in medicine, 2021-07, Vol.23 (7), p.1296-1304

2021

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Marfan Sartan: a randomized, double-blind, placebo-controlled trial

European heart journal, 2015-08, Vol.36 (32), p.2160-2166

2015

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Is physical activity a future therapy for patients with Marfan syndrome?

Orphanet journal of rare diseases, 2022-02, Vol.17 (1), p.46-46, Article 46

2022

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Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics

European heart journal, 2022-05, Vol.43 (20), p.1901-1916

2022

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Marfan syndrome

Nature reviews. Disease primers, 2021-09, Vol.7 (1), p.64-64, Article 64

2021

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Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome

Genetics in medicine, 2021-05, Vol.23 (5), p.865-871

2021

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Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

European journal of human genetics : EJHG, 2018-12, Vol.26 (12), p.1759-1772

2018

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Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

American journal of human genetics, 2013-08, Vol.93 (2), p.398-404

2013

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A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

Human genetics, 2020-04, Vol.139 (4), p.461-472

2020

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MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

American journal of human genetics, 2014-12, Vol.95 (6), p.736-743

2014

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Staged hybrid repair of type II thoracoabdominal aneurysms

Journal of vascular surgery, 2021-07, Vol.74 (1), p.20-27

2021

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The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele

Human molecular genetics, 2015-05, Vol.24 (10), p.2764-2770

2015

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Epigenetic control of vascular smooth muscle cells in Marfan and non-Marfan thoracic aortic aneurysms

Cardiovascular research, 2011-02, Vol.89 (2), p.446-456

2011

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FOXE3 mutations predispose to thoracic aortic aneurysms and dissections

The Journal of clinical investigation, 2016-03, Vol.126 (3), p.948-961

2016

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eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN)

Orphanet journal of rare diseases, 2021-04, Vol.16 (1), p.164-164, Article 164

2021

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Inhibition of Glycoprotein VI Clustering by Collagen as a Mechanism of Inhibiting Collagen-Induced Platelet Responses: The Example of Losartan

PloS one, 2015-06, Vol.10 (6), p.e0128744-e0128744

2015

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MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

Genetics in medicine, 2019-01, Vol.21 (1), p.144-151

2019

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Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway

The Journal of pathology, 2009-05, Vol.218 (1), p.131-142

2009

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European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

Orphanet journal of rare diseases, 2019-11, Vol.14 (1), p.264-264, Article 264

2019

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Isolated left ventricular non-compaction in adults: clinical and echocardiographic features in 105 patients. Results from a French registry

European journal of heart failure, 2011-02, Vol.13 (2), p.177-185

2011

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From genetics to response to injury: vascular smooth muscle cells in aneurysms and dissections of the ascending aorta

False lumen embolization in chronic aortic dissection promotes thoracic aortic remodeling at midterm follow-up

Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

Marfan Sartan: a randomized, double-blind, placebo-controlled trial

Is physical activity a future therapy for patients with Marfan syndrome?

Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics

Marfan syndrome

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

Assessing and grading congestion in acute heart failure: a scientific statement from the Acute Heart Failure Committee of the Heart Failure Association of the European Society of Cardiology and endorsed by the European Society of Intensive Care Medicine

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

Staged hybrid repair of type II thoracoabdominal aneurysms

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele

Epigenetic control of vascular smooth muscle cells in Marfan and non-Marfan thoracic aortic aneurysms

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections

eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN)

Inhibition of Glycoprotein VI Clustering by Collagen as a Mechanism of Inhibiting Collagen-Induced Platelet Responses: The Example of Losartan

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

Isolated left ventricular non-compaction in adults: clinical and echocardiographic features in 105 patients. Results from a French registry

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